Canonical Allele Identifier: CA354437930
Gene: ACAD9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128908201T>G , CM000665.2:g.128908201T>G GRCh38
NC_000003.11:g.128627044T>G , CM000665.1:g.128627044T>G GRCh37
NC_000003.10:g.130109734T>G NCBI36
NG_017064.1:g.33712T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308982.12:c.1295T>G MANE Select ENSP00000312618.7:p.Leu432Arg
ENST00000511325.2:n.1373T>G
ENST00000679399.1:c.*1466T>G ENSP00000505434.1:n.*1466T>G
ENST00000679431.1:c.*1171T>G ENSP00000506440.1:n.*1171T>G
ENST00000679613.1:c.1295T>G ENSP00000504971.1:p.Leu432Arg
ENST00000679715.1:c.926T>G ENSP00000506228.1:p.Leu309Arg
ENST00000679824.1:c.*2601T>G ENSP00000505516.1:n.*2601T>G
ENST00000679990.1:n.1530T>G
ENST00000680636.1:c.1295T>G ENSP00000504886.1:p.Leu432Arg
ENST00000680638.1:n.340T>G
ENST00000680744.1:c.*648T>G ENSP00000505243.1:n.*648T>G
ENST00000680764.1:c.*2699T>G ENSP00000505126.1:n.*2699T>G
ENST00000681319.1:n.1373T>G
ENST00000681367.1:c.1295T>G ENSP00000505309.1:p.Leu432Arg
ENST00000681552.1:c.1149+3696T>G ENSP00000505699.1:n.1149+3696T>G
ENST00000681583.1:c.1295T>G ENSP00000506340.1:p.Leu432Arg
ENST00000681585.1:c.1295T>G ENSP00000506316.1:p.Leu432Arg
ENST00000681784.1:n.1373T>G
ENST00000681886.1:c.*488T>G ENSP00000506500.1:n.*488T>G
ENST00000308982.11:c.1295T>G ENSP00000312618.7:p.Leu432Arg
ENST00000505192.5:c.*991T>G ENSP00000426277.1:n.*991T>G
ENST00000505867.5:c.*1095T>G ENSP00000425346.1:n.*1095T>G
ENST00000508971.1:c.584T>G ENSP00000422683.1:p.Leu195Arg
ENST00000511227.5:c.*1189T>G ENSP00000425226.1:n.*1189T>G
ENST00000511325.1:n.276T>G
ENST00000511526.5:n.828T>G
NM_014049.4:c.1295T>G NP_054768.2:p.Leu432Arg
NR_033426.1:n.1673T>G
XM_011512742.1:c.926T>G XP_011511044.1:p.Leu309Arg
XR_427367.1:n.1371T>G
XM_024453484.1:c.926T>G XP_024309252.1:p.Leu309Arg
XM_024453485.1:c.926T>G XP_024309253.1:p.Leu309Arg
XR_427367.3:n.1371T>G
NM_014049.5:c.1295T>G MANE Select NP_054768.2:p.Leu432Arg
NR_033426.2:n.1543T>G